A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269504



Internal ID2111337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191188558..191256228hg38UCSC Ensembl
chr3:190906347..190974017hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3867671
hg1967671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599091
Supporting Variants
SamplesHG01920
Known GenesOSTN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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